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May 14, 2012

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I'm am excited to announce I'm expecting baby #3! We did some testing and expect to present the boys with a sister in November.

I'm having a hard time wrapping my brain around the concept of a daughter. I'm so used to boys, it will take some time to adjust to having a girl. Although I have not doubt she will be playing with trains, cars, and bulldozers.





May 12, 2012

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We and an excellent time on last week's cruise. 7 days from Los Angeles to Vancouver with stops in San Fransisco, Oregon and British Colombia. We went with my parents and my brother and his wife, which in my opinion is the best way to travel by cruise since you have companions to play and dine with. The kids had a great time too. They loved the food (they subsisted mostly on pizza, french fries and macaroni and cheese), love the bunk bed, and also loved the childcare. The fact that they both were happy to go to the kids club was an unexpected bonus and gave me and Gary more freedom than in previous trips. Overall, it was one of the best vacations I've been on in a long time.









Genetic Disease Of The Week

Salla disease is a disorder of free sialic acid metabolism. These neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. The mildest phenotype is Salla disease, characterized by normal appearance and neurologic findings at birth followed by slowly progressive neurologic deterioration resulting in mild-to- moderate psychomotor retardation, spasticity, athetosis, and epileptic seizures. The free sialic acid storage disorders are inherited in an autosomal recessive manner due to mutations in the SLC17A5 gene.

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